A Novel Mutation Causing Mendelian Susceptibility to Mycobacterial Disease
Abstract
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a diverse group of diagnoses related to impairment in the immune response to intracellular pathogens, which can be mediated by defects at many points along the way in the mononuclear phagocyte/T helper cell type 1 axis. Symptoms typically present in childhood with infection caused by non-pathogenic mycobacteria such as the BCG vaccine. Immunodeficiency 29 is the subset of MSMD caused by mutations in IL-12. We describe a novel mutation causing Immunodeficiency 29 in an Active Duty patient.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2020
- Accession Number
- AD1111298
Entities
People
- Samuel Weiss
- Sofia Szari
Organizations
- 59th Medical Wing